MRM2 (mitochondrial rRNA methyltransferase 2)

Gene

• Entrez ID: 29960
• Gene name: Mitochondrial rRNA methyltransferase 2
• Gene symbol: MRM2
• Synonyms (NCBI Gene): FJH1, FTSJ2, HEL97, MTDPS17, RRMJ2
• Chromosome: 7
• Chromosome location: 7p22.3
• Summary: The protein encoded by this gene is a member of the S-adenosylmethionine-binding protein family. It is a nucleolar protein and it may be involved in the processing and modification of rRNA. This gene has been suggested to be involved in cell cycle control

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1584622847	C>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT721083	hsa-miR-302f	HITS-CLIP	19536157
MIRT721082	hsa-miR-1226-3p	HITS-CLIP	19536157
MIRT721081	hsa-miR-4733-3p	HITS-CLIP	19536157
MIRT721080	hsa-miR-219b-3p	HITS-CLIP	19536157
MIRT721079	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT643481	hsa-miR-4311	HITS-CLIP	23824327
MIRT643480	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT643479	hsa-miR-4286	HITS-CLIP	23824327
MIRT643478	hsa-miR-370-3p	HITS-CLIP	23824327
MIRT643477	hsa-miR-6893-3p	HITS-CLIP	23824327
MIRT643476	hsa-miR-676-3p	HITS-CLIP	23824327
MIRT643475	hsa-miR-2355-3p	HITS-CLIP	23824327

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000451	Process	RRNA 2'-O-methylation	TAS
GO:0001510	Process	RNA methylation	IBA
GO:0001510	Process	RNA methylation	IEA
GO:0005730	Component	Nucleolus	IDA	11827451
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	IMP	35177605
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006364	Process	RRNA processing	IEA
GO:0006364	Process	RRNA processing	IMP	35177605
GO:0006364	Process	RRNA processing	NAS	11827451
GO:0008168	Function	Methyltransferase activity	IEA
GO:0008650	Function	RRNA (uridine-2'-O-)-methyltransferase activity	EXP	25074936
GO:0008650	Function	RRNA (uridine-2'-O-)-methyltransferase activity	IBA
GO:0008650	Function	RRNA (uridine-2'-O-)-methyltransferase activity	IMP	35177605
GO:0008650	Function	RRNA (uridine-2'-O-)-methyltransferase activity	NAS	11827451
GO:0016740	Function	Transferase activity	IEA
GO:0031167	Process	RRNA methylation	NAS	11827451
GO:0032259	Process	Methylation	IEA
GO:1902775	Process	Mitochondrial large ribosomal subunit assembly	IEA
GO:1902775	Process	Mitochondrial large ribosomal subunit assembly	IMP	35177605

Other IDs

• MIM: 606906
• HGNC: 16352
• e!Ensembl: ENSG00000122687

Protein

• UniProt ID: Q9UI43
• Protein name: rRNA methyltransferase 2, mitochondrial (EC 2.1.1.-) (16S rRNA (uridine(1369)-2'-O)-methyltransferase) (16S rRNA [Um1369] 2'-O-methyltransferase) (Protein ftsJ homolog 2)
• Protein function: S-adenosyl-L-methionine-dependent 2'-O-ribose methyltransferase that catalyzes the formation of 2'-O-methyluridine at position 1369 (Um1369) in the 16S mitochondrial large subunit ribosomal RNA (mtLSU rRNA), a universally conserved modification
• PDB: 2NYU, 7O9K, 7O9M, 7ODS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01728	FtsJ	52 → 237	FtsJ-like methyltransferase	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, with highest expression in muscle, placenta, and heart. {ECO:0000269|PubMed:11827451}.
• Sequence:

  MAGYLKLVCVSFQRQGFHTVGSRCKNRTGAEHLWLTRHLRDPFVKAAKVESYRCRSAFKL
  LEVNERHQILRPGLRVLDCGAAPGAWSQVAVQKVNAAGTDPSSPVGFVLGVDLLHIFPLE
  GATFLCPADVTDPRTSQRILEVLPGRRADVILSDMAPNATGFRDLDHDRLISLCLTLLSV
  TPDILQPGGTFLCKTWAGSQSRRLQRRLTEEFQNVRIIKPEASRKESSEVYFLATQYHGR
  KGTVKQ

• Sequence length: 246

Pathways

Reactome:

rRNA modification in the mitochondrion

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Mitochondrial DNA depletion syndrome 17	Pathogenic	rs749074594, rs1584622847	RCV003890776 RCV000850108	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MRM2-related disorder	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
MELAS Syndrome	Associate	28973171	★☆☆☆☆ Found in Text Mining only